CFTR c.28_29delinsTT ;(p.S10F)

Variant ID: 7-117120176-AG-TT

NM_000492.3(CFTR):c.28_29delinsTT;(p.S10F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identifying the E2F3-MEX3A-KLF4 signaling axis that sustains cancer cells in undifferentiated and proliferative state.

Theranostics
Yang, Xu X; Li, Guilin G; Tian, Yuhua Y; Wang, Xin X; Xu, Jiuzhi J; Liu, Ruiqi R; Deng, Min M; Shao, Chunlei C; Pan, Yuwei Y; Wu, Xi X; Li, Mengzhen M; Zhang, Chaowei C; Liu, Rui R; Qin, Jun J; Zhang, Chen C; Liu, Zhanju Z; Wu, Xin X; Plikus, Maksim V MV; Lengner, Christopher J CJ; Zheng, Zongheng Z; Lv, Cong C; Yu, Zhengquan Z
Publication Date: 2022

Variant appearance in text: CFTR: S10F
PubMed Link: 36276637
Variant Present in the following documents:
  • thnov12p6865.pdf
View BVdb publication page



Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry
Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P
Publication Date: 2022-03

Variant appearance in text: CFTR: S10F
PubMed Link: 35065958
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis.

Clinical Epigenetics
Bazzocco, Sarah S; Dopeso, Higinio H; Martínez-Barriocanal, Águeda Á; Anguita, Estefanía E; Nieto, Rocío R; Li, Jing J; García-Vidal, Elia E; Maggio, Valentina V; Rodrigues, Paulo P; de Marcondes, Priscila Guimarães PG; Schwartz, Simo S; Aaltonen, Lauri A LA; Sánchez, Alex A; Mariadason, John M JM; Arango, Diego D
Publication Date: 2021-04-23

Variant appearance in text: CFTR: S10f
PubMed Link: 33892786
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR-β-catenin interaction regulates mouse embryonic stem cell differentiation and embryonic development.

Cell Death And Differentiation
Liu, Zhenqing Z; Guo, Jinghui J; Wang, Yan Y; Weng, Zhihui Z; Huang, Biao B; Yu, Mei-Kuen MK; Zhang, Xiaohu X; Yuan, Ping P; Zhao, Hui H; Chan, Wai-Yee WY; Jiang, Xiaohua X; Chan, Hsiao-Chang HC
Publication Date: 2017-01

Variant appearance in text: CFTR: S10f
PubMed Link: 27834953
Variant Present in the following documents:
  • Main text
View BVdb publication page